Hereditary Hemochromatosis is a rare genetic iron overload disorder characterized by iron accumulation in vital body organs such as the lungs, liver, and pancreas. HAMP mutations are reported as one of the principal sources for the disturbance of iron homeostasis. This study was designed to screen the involvement of p.Cys70Arg HAMP variant in iron overload in the β-thalassemia patients. For the purpose, bioinformatics tools were used for the structural and functional manifestation of mutated protein which revealed 1.93 kcal/mol energy differences between the wild-type and mutated proteins, causing the stability decline. Following that, clinical data was collected for 106 β-thalassemia major (β-TM) patients which showed a higher prevalence of splenectomy, hepatomegaly and ascites. The PCR-RFLPs were performed to screen the HAMP p.Cys70Arg in 27 controls and 106 β-TM patients. Sac ӀӀ restriction enzyme was used to screen genetically affected and ethnically matched control samples but no control was found with HAMP p.Cys70Arg variant. Out of these 106 β-thalassemia patients, eight patients were HCV+ with higher levels of ferritin in blood. HAMP exon 3 Sanger sequencing did not reveal any mutation in these patients conferring iatrogenic hemochromatosis. Future recommendations include sequencing of complete HAMP gene with its three exons in a large sample size.

Article History

Received: August 09, 2021; Accepted: March 27, 2022; Published: June 15, 2022